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@ARTICLE{Sturm:274348,
      author       = {D. Sturm$^*$ and D. Capper$^*$ and F. Andreiuolo and M.
                      Gessi and C. Kölsche and A. Reinhardt and P. Sievers and A.
                      K. Wefers and A. Ebrahimi$^*$ and A. K. Suwala$^*$ and G. H.
                      Gielen and M. Sill$^*$ and D. Schrimpf and D. Stichel$^*$
                      and V. Hovestadt and B. Daenekas and A. Rode$^*$ and S.
                      Hamelmann$^*$ and C. Previti$^*$ and N. Jäger$^*$ and I.
                      Buchhalter$^*$ and M. Blattner-Johnson$^*$ and B. C.
                      Jones$^*$ and M. Warmuth-Metz and B. Bison and K. Grund and
                      C. Sutter and S. Hirsch$^*$ and N. Dikow and M. Hasselblatt
                      and U. Schüller and N. U. Gerber and C. L. White and M. K.
                      Buntine and K. Kinross and E. M. Algar and J. R. Hansford
                      and N. G. Gottardo and P. Hernáiz Driever and A. Gnekow and
                      O. Witt$^*$ and H. L. Müller and G. Calaminus and G.
                      Fleischhack and U. Kordes and M. Mynarek and S. Rutkowski
                      and M. C. Frühwald and C. M. Kramm and A. von Deimling$^*$
                      and T. Pietsch and F. Sahm$^*$ and S. M. Pfister$^*$ and D.
                      Jones$^*$},
      title        = {{M}ultiomic neuropathology improves diagnostic accuracy in
                      pediatric neuro-oncology.},
      journal      = {Nature medicine},
      volume       = {29},
      number       = {4},
      issn         = {1078-8956},
      address      = {New York, NY},
      publisher    = {Nature America Inc.},
      reportid     = {DKFZ-2023-00550},
      pages        = {917-926},
      year         = {2023},
      note         = {#EA:B360#LA:B300#LA:B062#LA:B360# / 2023 Apr;29(4):917-926},
      abstract     = {The large diversity of central nervous system (CNS) tumor
                      types in children and adolescents results in disparate
                      patient outcomes and renders accurate diagnosis challenging.
                      In this study, we prospectively integrated DNA methylation
                      profiling and targeted gene panel sequencing with blinded
                      neuropathological reference diagnostics for a
                      population-based cohort of more than 1,200 newly diagnosed
                      pediatric patients with CNS tumors, to assess their utility
                      in routine neuropathology. We show that the multi-omic
                      integration increased diagnostic accuracy in a substantial
                      proportion of patients through annotation to a refining DNA
                      methylation class $(50\%),$ detection of diagnostic or
                      therapeutically relevant genetic alterations $(47\%)$ or
                      identification of cancer predisposition syndromes $(10\%).$
                      Discrepant results by neuropathological WHO-based and DNA
                      methylation-based classification $(30\%)$ were enriched in
                      histological high-grade gliomas, implicating relevance for
                      current clinical patient management in $5\%$ of all
                      patients. Follow-up (median 2.5 years) suggests improved
                      survival for patients with histological high-grade gliomas
                      displaying lower-grade molecular profiles. These results
                      provide preliminary evidence of the utility of integrating
                      multi-omics in neuropathology for pediatric neuro-oncology.},
      cin          = {B360 / BE01 / B300 / B062 / W610 / B310 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)BE01-20160331 /
                      I:(DE-He78)B300-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)W610-20160331 / I:(DE-He78)B310-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36928815},
      doi          = {10.1038/s41591-023-02255-1},
      url          = {https://inrepo02.dkfz.de/record/274348},
}